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Q96ST8 (CEP89_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 89. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (4) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Centrosomal protein of 89 kDa

Short name=Cep89
Alternative name(s):
Centrosomal protein 123
Short name=Cep123
Coiled-coil domain-containing protein 123
Gene names
Name:CEP89
Synonyms:CCDC123
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length783 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

Required for ciliogenesis. Also plays a role in mitochondrial metabolism where it may modulate complex IV activity. Ref.7 Ref.8

Subcellular location

Cytoplasmcytosol. Cytoplasmcytoskeletonmicrotubule organizing centercentrosome. Cytoplasmcytoskeletonspindle pole. Cytoplasmcytoskeletonmicrotubule organizing centercentrosomecentriole. Mitochondrion intermembrane space. Note: Localizes to the distal appendage region of the centriole, which anchors the mother centriole to the plasma membrane. Ref.5 Ref.6 Ref.7 Ref.8

Involvement in disease

Homozygous deletion comprising CEP89 and SLC7A9 genes has been reported in a patient with isolated complex IV deficiency, intellectual disability and multisystemic problems that include cystinuria, cataract, broad based walking pattern and deafness (Ref.8). Ref.8

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q96ST8-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: Q96ST8-2)

The sequence of this isoform differs from the canonical sequence as follows:
     1-247: Missing.
Note: No experimental confirmation available.
Isoform 3 (identifier: Q96ST8-3)

The sequence of this isoform differs from the canonical sequence as follows:
     344-356: SLNIEGLPSKGPI → VTFPIVKISFSDF
     357-782: Missing.
Note: No experimental confirmation available.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 783783Centrosomal protein of 89 kDa
PRO_0000288809

Regions

Coiled coil234 – 333100 Potential
Coiled coil369 – 719351 Potential

Amino acid modifications

Modified residue501Phosphoserine Ref.4

Natural variations

Alternative sequence1 – 247247Missing in isoform 2.
VSP_039181
Alternative sequence344 – 35613SLNIE…SKGPI → VTFPIVKISFSDF in isoform 3.
VSP_039182
Alternative sequence357 – 782426Missing in isoform 3.
VSP_039183
Natural variant1941R → W.
Corresponds to variant rs3764633 [ dbSNP | Ensembl ].
VAR_063122
Natural variant3981V → A. Ref.1 Ref.3
Corresponds to variant rs4805825 [ dbSNP | Ensembl ].
VAR_063123

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified May 18, 2010. Version 3.
Checksum: 7EE45B222951CED0

FASTA78389,590
        10         20         30         40         50         60 
MLLGFRRGRR SHFKHIIHGL LPAASVAPKA AVPRTPPPRS PNPSPERPRS ALAAAILATT 

        70         80         90        100        110        120 
LTGRTVAIPQ PRQRSRSESD VSSVEQDSFI EPYATTSQLR PRPNWQSEMG RRSSLPSFET 

       130        140        150        160        170        180 
LDYGDEEDIE TQLSSSGKEL GDVSAREDRG GHSDDLYAVP HRNQVPLLHE VNSEDDENIS 

       190        200        210        220        230        240 
HQDGFPGSPP APQRTQQKDG KHPVLNLKDE KPPLCEKPPP SPDITGRARQ RYTEITREKF 

       250        260        270        280        290        300 
EALKEENMDL NNMNQSLTLE LNTMKQAMKE LQLKLKGMEK EKRKLKEAEK ASSQEVAAPE 

       310        320        330        340        350        360 
LLYLRKQAQE LVDENDGLKM TVHRLNVELS RYQTKFRHLS KEESLNIEGL PSKGPIPPWL 

       370        380        390        400        410        420 
LDIKYLSPLL LAYEDMMKEK DELNATLKEE MRMFRMRVQE VVKENEELHQ ELNKSSAVTS 

       430        440        450        460        470        480 
EEWRQLQTQA KLVLEENKLL LEQLEIQQRK AKDSHQERLQ EVSKLTKQLM LLEAKTHGQE 

       490        500        510        520        530        540 
KELAENREQL EILRAKCQEL KTHSDGKIAV EVHKSIVNEL KSQLQKEEEK ERAEMEELME 

       550        560        570        580        590        600 
KLTVLQAQKK SLLLEKNSLT EQNKALEAEL ERAQKINRKS QKKIEVLKKQ VEKAMGNEMS 

       610        620        630        640        650        660 
AHQYLANLVG LAENITQERD SLMCLAKCLE SEKDGVLNKV IKSNIRLGKL EEKVKGYKKQ 

       670        680        690        700        710        720 
AALKLGDISH RLLEQQEDFA GKTAQYRQEM RHLHQVLKDK QEVLDQALQQ NREMEGELEV 

       730        740        750        760        770        780 
IWESTFRENR RIRELLQDTL TRTGVQDNPR ALVAPSLNGV SQADLLDGCD VCSYDLKSHA 


PTC 

« Hide

Isoform 2 [UniParc].

Checksum: 3E3D037CC5C62FCF
Show »

FASTA53662,126
Isoform 3 [UniParc].

Checksum: B54BFDAC136EA215
Show »

FASTA35740,338

References

« Hide 'large scale' references
[1]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), VARIANT ALA-398.
[2]"The DNA sequence and biology of human chromosome 19."
Grimwood J., Gordon L.A., Olsen A.S., Terry A., Schmutz J., Lamerdin J.E., Hellsten U., Goodstein D., Couronne O., Tran-Gyamfi M., Aerts A., Altherr M., Ashworth L., Bajorek E., Black S., Branscomb E., Caenepeel S., Carrano A.V. expand/collapse author list , Caoile C., Chan Y.M., Christensen M., Cleland C.A., Copeland A., Dalin E., Dehal P., Denys M., Detter J.C., Escobar J., Flowers D., Fotopulos D., Garcia C., Georgescu A.M., Glavina T., Gomez M., Gonzales E., Groza M., Hammon N., Hawkins T., Haydu L., Ho I., Huang W., Israni S., Jett J., Kadner K., Kimball H., Kobayashi A., Larionov V., Leem S.-H., Lopez F., Lou Y., Lowry S., Malfatti S., Martinez D., McCready P.M., Medina C., Morgan J., Nelson K., Nolan M., Ovcharenko I., Pitluck S., Pollard M., Popkie A.P., Predki P., Quan G., Ramirez L., Rash S., Retterer J., Rodriguez A., Rogers S., Salamov A., Salazar A., She X., Smith D., Slezak T., Solovyev V., Thayer N., Tice H., Tsai M., Ustaszewska A., Vo N., Wagner M., Wheeler J., Wu K., Xie G., Yang J., Dubchak I., Furey T.S., DeJong P., Dickson M., Gordon D., Eichler E.E., Pennacchio L.A., Richardson P., Stubbs L., Rokhsar D.S., Myers R.M., Rubin E.M., Lucas S.M.
Nature 428:529-535(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[3]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3), VARIANT ALA-398.
Tissue: Brain and Colon.
[4]"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions."
Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K.
Sci. Signal. 2:RA46-RA46(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-50, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
Tissue: Leukemic T-cell.
[5]"Assessing the localization of centrosomal proteins by PALM/STORM nanoscopy."
Sillibourne J.E., Specht C.G., Izeddin I., Hurbain I., Tran P., Triller A., Darzacq X., Dahan M., Bornens M.
Cytoskeleton 68:619-627(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: SUBCELLULAR LOCATION.
[6]"Novel asymmetrically localizing components of human centrosomes identified by complementary proteomics methods."
Jakobsen L., Vanselow K., Skogs M., Toyoda Y., Lundberg E., Poser I., Falkenby L.G., Bennetzen M., Westendorf J., Nigg E.A., Uhlen M., Hyman A.A., Andersen J.S.
EMBO J. 30:1520-1535(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: IDENTIFICATION BY MASS SPECTROMETRY, SUBCELLULAR LOCATION.
[7]"Centriole distal appendages promote membrane docking, leading to cilia initiation."
Tanos B.E., Yang H.J., Soni R., Wang W.J., Macaluso F.P., Asara J.M., Tsou M.F.
Genes Dev. 27:163-168(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, SUBCELLULAR LOCATION.
[8]"CEP89 is required for mitochondrial metabolism and neuronal function in man and fly."
van Bon B.W., Oortveld M.A., Nijtmans L.G., Fenckova M., Nijhof B., Besseling J., Vos M., Kramer J.M., de Leeuw N., Castells-Nobau A., Asztalos L., Viragh E., Ruiter M., Hofmann F., Eshuis L., Collavin L., Huynen M.A., Asztalos Z. expand/collapse author list , Verstreken P., Rodenburg R.J., Smeitink J.A., de Vries B.B., Schenck A.
Hum. Mol. Genet. 22:3138-3151(2013) [PubMed] [Europe PMC] [Abstract]
Cited for: FUNCTION, SUBCELLULAR LOCATION, DISEASE.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AK027546 mRNA. Translation: BAB55190.1.
AC008805 Genomic DNA. No translation available.
AC119048 Genomic DNA. No translation available.
AC011449 Genomic DNA. No translation available.
BC032307 mRNA. Translation: AAH32307.1.
BC136328 mRNA. Translation: AAI36329.1.
CCDSCCDS32987.1. [Q96ST8-1]
RefSeqNP_116205.3. NM_032816.3. [Q96ST8-1]
XP_005259402.1. XM_005259345.1. [Q96ST8-2]
UniGeneHs.599703.

3D structure databases

ProteinModelPortalQ96ST8.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid124342. 2 interactions.
DIPDIP-47325N.
IntActQ96ST8. 3 interactions.
STRING9606.ENSP00000306105.

PTM databases

PhosphoSiteQ96ST8.

Polymorphism databases

DMDM296439414.

Proteomic databases

MaxQBQ96ST8.
PaxDbQ96ST8.
PRIDEQ96ST8.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000305768; ENSP00000306105; ENSG00000121289. [Q96ST8-1]
ENST00000590597; ENSP00000466442; ENSG00000121289.
GeneID84902.
KEGGhsa:84902.
UCSCuc002ntx.3. human. [Q96ST8-1]
uc002nua.3. human. [Q96ST8-3]

Organism-specific databases

CTD84902.
GeneCardsGC19M033370.
H-InvDBHIX0022917.
HGNCHGNC:25907. CEP89.
HPAHPA039382.
HPA040056.
MIM615470. gene.
neXtProtNX_Q96ST8.
Orphanet254905. Isolated cytochrome C oxidase deficiency.
PharmGKBPA147358250.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG75458.
HOGENOMHOG000111383.
HOVERGENHBG075238.
InParanoidQ96ST8.
KOK16543.
OMAPSPDITG.
OrthoDBEOG7XM30C.
PhylomeDBQ96ST8.
TreeFamTF329234.

Gene expression databases

ArrayExpressQ96ST8.
BgeeQ96ST8.
CleanExHS_CCDC123.
GenevestigatorQ96ST8.

Family and domain databases

ProtoNetSearch...

Other

GenomeRNAi84902.
NextBio75272.
PROQ96ST8.
SOURCESearch...

Entry information

Entry nameCEP89_HUMAN
AccessionPrimary (citable) accession number: Q96ST8
Secondary accession number(s): B9EGA6, Q8N5J8
Entry history
Integrated into UniProtKB/Swiss-Prot: May 29, 2007
Last sequence update: May 18, 2010
Last modified: July 9, 2014
This is version 89 of the entry and version 3 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 19

Human chromosome 19: entries, gene names and cross-references to MIM